Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (nonsense) | Trichothiodystrophy 4, nonphotosensitive | |
| | | Indel (frameshift variant) | Trichothiodystrophy 4, nonphotosensitive | |
| | | Deletion (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Trichothiodystrophy 4, nonphotosensitive | |
| | | Single nucleotide variant (missense variant) | Trichothiodystrophy 4, nonphotosensitive | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Trichothiodystrophy 4, nonphotosensitive | |
| | LOC129998295, MPLKIP (H50fs) | Deletion (frameshift variant) | Trichothiodystrophy 4, nonphotosensitive | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion | Trichothiodystrophy 4, nonphotosensitive | |
| | | Deletion (frameshift variant) | Trichothiodystrophy 4, nonphotosensitive | |
| | | Single nucleotide variant (missense variant) | not provided | |
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